DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Sunken eyes ×

Variants associated to the Gene: THOC6 ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs200426926	THOC6 ; BICDL2	0.776	0.400	16	3027379	missense variant	G/A;T	snv	1.8E-04; 4.0E-06		13
rs138632121	THOC6 ; HCFC1R1	0.776	0.400	16	3026140	missense variant	T/A	snv	1.7E-04	2.0E-04	13